Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000405.5(GM2A):c.412T>C (p.Cys138Arg)	SNV Germline	Chr5:151266899	Pathogenic	Tay-Sachs disease, variant AB	No Assertion Criteria Provided	CA114233	rs_137852797	1 SubmittersRCV000000421
NM_000405.5(GM2A):c.506G>C (p.Arg169Pro)	SNV Germline	Chr5:151267375	Pathogenic	Tay-Sachs disease, variant AB	No Assertion Criteria Provided	CA114235	rs_104893892	1 SubmittersRCV000000422
NM_000405.5(GM2A):c.160G>T (p.Glu54Ter)	SNV Germline	Chr5:151259833	Pathogenic	Tay-Sachs disease, variant AB	No Assertion Criteria Provided	CA114236	rs_104893897	1 SubmittersRCV000000425
NM_000520.6(HEXA):c.1421+1G>C	SNV Germline	Chr15:72346234	Pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252904	rs_147324677	10 SubmittersRCV000004094 RCV000255737
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)	SNV Germline	Chr15:72345528	Pathogenic/Likely pathogenic	Tay-Sachs disease Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252906	rs_121907952	7 SubmittersRCV000004096 RCV002512734 RCV003480020
NM_000520.6(HEXA):c.346+1G>C	SNV Germline	Chr15:72356524	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA252907	rs_797044432	5 SubmittersRCV000004097
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)	SNV Germline	Chr15:72345461	Pathogenic/Likely pathogenic	Gm2-gangliosidosis, juvenile Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116497	rs_121907955	9 SubmittersRCV000004099 RCV000409695 RCV001800288
NM_000520.6(HEXA):c.533G>A (p.Arg178His)	SNV Germline	Chr15:72353105	Pathogenic/Likely pathogenic	Tay-Sachs disease, B1 variant Hexa, dn allele Tay-Sachs disease Condition: not provided Global developmental delay Inborn genetic diseases HEXA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116498	rs_28941770	20 SubmittersRCV000004100 RCV000004101 RCV000409508 RCV000396083 RCV001255389 RCV002345228 RCV003964792
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)	SNV Germline	Chr15:72353106	Pathogenic	Tay-Sachs disease, B1 variant Tay-Sachs disease	Criteria Provided Single Submitter	CA116499	rs_121907953	4 SubmittersRCV000004102 RCV000416435
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	SNV Germline	Chr15:72350518	Pathogenic/Likely pathogenic	Gm2-gangliosidosis, adult Tay-Sachs disease Condition: not provided Inborn genetic diseases HEXA-related disorder Gm2-gangliosidosis, late onset	Criteria Provided Multiple Submitters No Conflicts	CA116500	rs_121907954	22 SubmittersRCV000004104 RCV000168285 RCV000434025 RCV002408450 RCV003924800 RCV001810397
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)	SNV Germline	Chr15:72345476	Pathogenic	Gm2-gangliosidosis, juvenile Inborn genetic diseases Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116501	rs_121907956	16 SubmittersRCV000004105 RCV000210735 RCV000338961 RCV000520531
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)	SNV Germline	Chr15:72353129	Pathogenic/Likely pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252909	rs_121907957	8 SubmittersRCV000004106 RCV000336253
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)	SNV Germline	Chr15:72346597	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA252910	rs_121907958	2 SubmittersRCV000004107
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp)	SNV Germline	Chr15:72350574	Likely pathogenic	Tay-sachs disease, juvenile Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA116502	rs_121907959	3 SubmittersRCV000004108 RCV002226437
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)	SNV Germline	Chr15:72355562	Pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252914	rs_121907962	8 SubmittersRCV000004110 RCV000255817
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)	SNV Germline	Chr15:72346680	Pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252916	rs_121907963	7 SubmittersRCV000004111 RCV000522695
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)	SNV Germline	Chr15:72345462	Pathogenic/Likely pathogenic	Gm2-gangliosidosis, chronic Tay-Sachs disease not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116503	rs_28942071	10 SubmittersRCV000004112 RCV000169084 RCV001000970 RCV001508769
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)	SNV Germline	Chr15:72351176	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA252918	rs_121907961	2 SubmittersRCV000004114
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)	SNV Germline	Chr15:72375895	Pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA252919	rs_121907964	4 SubmittersRCV000004117
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu)	SNV Germline	Chr15:72353105	Likely pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Single Submitter	CA252921	rs_28941770	2 SubmittersRCV000004118 RCV003476891
NM_000520.6(HEXA):c.1A>G (p.Met1Val)	SNV Germline	Chr15:72375972	Pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA252922	rs_121907965	5 SubmittersRCV000004120
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)	SNV Germline	Chr15:72345477	Pathogenic/Likely pathogenic	GM2-gangliosidosis, adult-onset Tay-Sachs disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA116504	rs_121907966	8 SubmittersRCV000004121 RCV000169417 RCV002390089
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter)	SNV Germline	Chr15:72348134	Likely pathogenic	Gm2-gangliosidosis, variant b1 Tay-Sachs disease	Criteria Provided Single Submitter	CA116505	rs_121907967	2 SubmittersRCV000004122 RCV002281692
NM_000520.6(HEXA):c.1073+1G>A	SNV Germline/somatic	Chr15:72348047	Pathogenic/Likely pathogenic	Tay-Sachs disease Condition: not provided Inborn genetic diseases HEXA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA221064	rs_76173977	20 SubmittersRCV000004126 RCV000079047 RCV002415396 RCV003952341
NM_000520.6(HEXA):c.772G>C (p.Asp258His)	SNV Germline	Chr15:72350551	Pathogenic/Likely pathogenic	Tay-Sachs disease, B1 variant Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116509	rs_121907971	5 SubmittersRCV000004130 RCV000801596 RCV001810829
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)	SNV Germline	Chr15:72353130	Pathogenic/Likely pathogenic	Tay-Sachs disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252927	rs_121907972	11 SubmittersRCV000004131 RCV002345229
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)	SNV Germline	Chr15:72351215	Conflicting classifications of pathogenicity	Gm2-gangliosidosis, late onset Tay-Sachs disease Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA116510	rs_121907973	6 SubmittersRCV000004133 RCV000674617 RCV001508770 RCV001797585
NM_000520.6(HEXA):c.672+1G>A	SNV Germline	Chr15:72351132	Pathogenic/Likely pathogenic	Tay-sachs disease, juvenile/adult Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116511	rs_387906311	6 SubmittersRCV000004134 RCV000412214 RCV000432194
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)	SNV Germline	Chr15:72355591	Pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA252929	rs_121907975	3 SubmittersRCV000004136
NM_000520.6(HEXA):c.611A>G (p.His204Arg)	SNV Germline	Chr15:72351194	Conflicting classifications of pathogenicity	Tay-Sachs disease not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA252930	rs_121907976	5 SubmittersRCV000004137 RCV001778646 RCV002054413
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)	SNV Germline	Chr15:72349163	Conflicting classifications of pathogenicity	Tay-Sachs disease Tay-Sachs disease Tay-Sachs disease, variant AB	Criteria Provided Conflicting Classifications	CA252931	rs_121907977	6 SubmittersRCV000004139 RCV001250228
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser)	SNV Germline	Chr15:72346296	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA252932	rs_121907978	2 SubmittersRCV000004140
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter)	SNV Germline	Chr15:72346681	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA252934	rs_267606862	2 SubmittersRCV000004142
NM_000520.6(HEXA):c.805+1G>A	SNV Germline	Chr15:72350517	Pathogenic	Tay-Sachs disease HEXA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116512	rs_121907980	7 SubmittersRCV000409276 RCV003944800
NM_000520.6(HEXA):c.538T>C (p.Tyr180His)	SNV Germline	Chr15:72353100	Likely pathogenic	Gm2-gangliosidosis, late onset Tay-Sachs disease	Criteria Provided Single Submitter	CA116513	rs_28941771	2 SubmittersRCV000004145 RCV002512735
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)	SNV Germline	Chr15:72345550	Pathogenic/Likely pathogenic	Gm2-gangliosidosis, subacute Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA116514	rs_121907981	4 SubmittersRCV000004147 RCV001244261
NM_000520.6(HEXA):c.972T>A (p.Val324=)	SNV Germline	Chr15:72349093	Conflicting classifications of pathogenicity	Gm2-gangliosidosis, subacute Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications	CA116515	rs_28942072	4 SubmittersRCV000004149 RCV001781173 RCV003332074
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)	SNV Germline	Chr17:43094569	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast and/or ovarian cancer Tay-Sachs disease Long QT syndrome	Reviewed By Expert Panel	CA003986	rs_80357292	19 SubmittersRCV000031293 RCV000049204 RCV000162891 RCV000159948 RCV000239176 RCV000735517 RCV004526601 RCV004541032
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)	SNV Germline	Chr15:72346259	Conflicting classifications of pathogenicity	Condition: not provided Tay-Sachs disease	Criteria Provided Conflicting Classifications	CA221065	rs_200936836	4 SubmittersRCV000079050 RCV000377261
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	SNV Germline	Chr15:72346552	Pathogenic/Likely pathogenic	Tay-Sachs disease Inborn genetic diseases Leukodystrophy Seizure Hearing impairment	Criteria Provided Multiple Submitters No Conflicts	CA267587	rs_587779406	8 SubmittersRCV000087095 RCV000624856 RCV002243757
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)	SNV Germline	Chr15:72350578	Conflicting classifications of pathogenicity; other	Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications	CA276005	rs_138058578	5 SubmittersRCV000190592 RCV000375852
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)	SNV Germline	Chr15:72344139	Pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274177	rs_786204585	7 SubmittersRCV000169328 RCV000421085
NM_000520.6(HEXA):c.986+3A>G	SNV Germline	Chr15:72349076	Pathogenic/Likely pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274144	rs_200926928	8 SubmittersRCV000169296 RCV003441767
NM_000520.6(HEXA):c.570+1G>A	SNV Germline	Chr15:72353067	Pathogenic/Likely pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274467	rs_786204754	3 SubmittersRCV000169610 RCV002478524
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)	SNV Germline	Chr15:72375971	Pathogenic/Likely pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274405	rs_786204721	11 SubmittersRCV000169541 RCV000255876
NM_000520.6(HEXA):c.1527-6T>C	SNV Germline	Chr15:72344146	Conflicting classifications of pathogenicity	not specified Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications	CA240243	rs_199914308	10 SubmittersRCV000246203 RCV000462401 RCV000724516
NM_000520.6(HEXA):c.536A>G (p.His179Arg)	SNV Germline	Chr15:72353102	Conflicting classifications of pathogenicity	Condition: not provided Tay-Sachs disease	Criteria Provided Conflicting Classifications	CA245951	rs_747372270	4 SubmittersRCV000520360 RCV001832027
NM_000520.6(HEXA):c.806-7G>A	SNV Germline	Chr15:72349266	Conflicting classifications of pathogenicity	Gm2-gangliosidosis, chronic Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications	CA276145	rs_770932296	9 SubmittersRCV000004146 RCV000191092 RCV001582679
NM_000520.6(HEXA):c.1385A>T (p.Glu462Val)	SNV Germline	Chr15:72346271	Pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA279889	rs_863225434	2 SubmittersRCV000202369
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)	SNV Germline	Chr15:72356531	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA10575831	rs_748190164	2 SubmittersRCV000203235
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro)	SNV Germline	Chr15:72346679	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA277861	rs_370266293	1 SubmittersRCV000202576
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn)	SNV Germline	Chr15:72349101	Pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA074928	rs_772180415	2 SubmittersRCV000207246
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)	SNV Germline	Chr15:72349101	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA074642	rs_772180415	6 SubmittersRCV000207019
NM_000520.6(HEXA):c.673-13T>C	SNV Germline	Chr15:72350663	Conflicting classifications of pathogenicity	Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications	CA7644917	rs_75211071	4 SubmittersRCV000408347 RCV001613017
NM_000520.6(HEXA):c.346+13C>T	SNV Germline	Chr15:72356512	Conflicting classifications of pathogenicity	Tay-Sachs disease not specified HEXA-related disorder	Criteria Provided Conflicting Classifications	CA7645037	rs_200871198	5 SubmittersRCV000299684 RCV001797704 RCV003957638
NM_000520.6(HEXA):c.1421+14G>C	SNV Germline	Chr15:72346221	Conflicting classifications of pathogenicity	Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications	CA7644697	rs_201497629	4 SubmittersRCV000345918 RCV001812835
NM_000520.6(HEXA):c.-4G>A	SNV Germline	Chr15:72375976	Conflicting classifications of pathogenicity	Tay-Sachs disease Condition: not provided HEXA-related disorder	Criteria Provided Conflicting Classifications	CA7645136	rs_766510036	6 SubmittersRCV000363844 RCV000675470 RCV003910198
NM_000520.5(HEXA):c.-59G>A	SNV Germline	Chr15:72376031	Conflicting classifications of pathogenicity	Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications	CA10646584	rs_147174351	3 SubmittersRCV000269335 RCV001836765
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)	SNV Germline	Chr15:72346641	Conflicting classifications of pathogenicity	Tay-Sachs disease Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7644756	rs_140482769	5 SubmittersRCV000342855 RCV003165854 RCV004546480
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	SNV Germline	Chr15:72347725	Conflicting classifications of pathogenicity	Tay-Sachs disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7644800	rs_140337137	7 SubmittersRCV000298559 RCV000860701 RCV002450874
NM_000520.5(HEXA):c.-167G>A	SNV Germline	Chr15:72376139	Conflicting classifications of pathogenicity	Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications	CA10647380	rs_77707876	3 SubmittersRCV000265963 RCV001567832
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)	SNV Germline	Chr15:72346235	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA16041733	rs_762374961	3 SubmittersRCV000409611
NM_000520.6(HEXA):c.1330+1G>A	SNV Germline	Chr15:72346526	Pathogenic	Tay-Sachs disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7644735	rs_767041069	6 SubmittersRCV000410148 RCV000438026
NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter)	SNV Unknown	Chr15:72346707	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA16041734	rs_1057516617	1 SubmittersRCV000411081
NM_000520.6(HEXA):c.806-1G>C	SNV Unknown	Chr15:72349260	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA16041736	rs_1057516908	1 SubmittersRCV000411061
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)	SNV Germline	Chr15:72350614	Pathogenic/Likely pathogenic	Tay-Sachs disease HEXA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16041737	rs_150675340	4 SubmittersRCV000411560 RCV003401387
NM_000520.6(HEXA):c.253+1G>A	SNV Germline	Chr15:72375719	Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA7645084	rs_770093080	2 SubmittersRCV000411110
NM_000520.6(HEXA):c.196C>T (p.Gln66Ter)	SNV Unknown	Chr15:72375777	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA16041740	rs_1057516957	1 SubmittersRCV000411228
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)	SNV Germline	Chr15:72375891	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA7645115	rs_751393950	3 SubmittersRCV000410898
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter)	SNV Germline	Chr15:72375947	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA16041743	rs_769370282	2 SubmittersRCV000409696
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu)	SNV Germline	Chr15:72346555	Conflicting classifications of pathogenicity	Condition: not provided Tay-Sachs disease	Criteria Provided Conflicting Classifications	CA16043770	rs_202173526	3 SubmittersRCV000415737 RCV002521471
NM_000520.6(HEXA):c.459+5G>A	SNV Germline	Chr15:72353686	Pathogenic/Likely pathogenic	Condition: not provided Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA7645005	rs_762060470	8 SubmittersRCV000416159 RCV000416449
NM_000405.5(GM2A):c.244-2A>T	SNV Germline	Chr5:151266729	Likely pathogenic	Tay-Sachs disease, variant AB	No Assertion Criteria Provided	CA16044025	rs_1057519022	1 SubmittersRCV000416363
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter)	SNV Germline	Chr5:151267341	Likely pathogenic	Tay-Sachs disease, variant AB	No Assertion Criteria Provided	CA16044026	rs_1057519021	1 SubmittersRCV000416329
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)	SNV Germline	Chr15:72345518	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA16044196	rs_1057519468	3 SubmittersRCV000416424
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)	SNV Germline	Chr15:72345540	Pathogenic	Tay-Sachs disease	No Assertion Criteria Provided	CA16044197	rs_1057519467	1 SubmittersRCV000416475
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg)	SNV Germline	Chr15:72346296	Likely pathogenic	Tay-Sachs disease	No Assertion Criteria Provided	CA16044198	rs_121907978	1 SubmittersRCV000416429
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter)	SNV Germline	Chr15:72346598	Likely pathogenic	Tay-Sachs disease	No Assertion Criteria Provided	CA16044200	rs_1057519465	1 SubmittersRCV000416427
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro)	SNV Germline	Chr15:72347711	Pathogenic	Tay-Sachs disease	No Assertion Criteria Provided	CA16044201	rs_1057519464	1 SubmittersRCV000416466
NM_000520.6(HEXA):c.805+1G>C	SNV Germline	Chr15:72350517	Pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA16044203	rs_121907980	7 SubmittersRCV000416460
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)	SNV Germline	Chr15:72350518	Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA16044204	rs_121907954	3 SubmittersRCV000416443
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)	SNV Germline	Chr15:72350535	Conflicting classifications of pathogenicity	Tay-Sachs disease not specified	Criteria Provided Conflicting Classifications	CA16044205	rs_1057519462	4 SubmittersRCV000416422 RCV003323529
NM_000520.6(HEXA):c.637T>C (p.Tyr213His)	SNV Germline	Chr15:72351168	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter	CA16044206	rs_1057519461	2 SubmittersRCV000416415
NM_000520.6(HEXA):c.616G>C (p.Val206Leu)	SNV Germline	Chr15:72351189	Likely pathogenic	Tay-Sachs disease	No Assertion Criteria Provided	CA16044207	rs_543071358	1 SubmittersRCV000416461
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala)	SNV Germline	Chr15:72353114	Pathogenic	Tay-Sachs disease	No Assertion Criteria Provided	CA16044208	rs_1057519460	1 SubmittersRCV000416473
NM_000520.6(HEXA):c.460-1G>A	SNV Germline	Chr15:72353179	Likely pathogenic	Tay-Sachs disease	No Assertion Criteria Provided	CA16044209	rs_764343937	1 SubmittersRCV000416480
NM_000520.6(HEXA):c.459+4A>C	SNV Germline	Chr15:72353687	Pathogenic	Tay-Sachs disease	No Assertion Criteria Provided	CA16044210	rs_1057519459	1 SubmittersRCV000416426
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)	SNV Germline	Chr15:72356555	Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA7645041	rs_773446161	4 SubmittersRCV000416452
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)	SNV Germline	Chr15:72350575	Conflicting classifications of pathogenicity	Condition: not provided Tay-Sachs disease not specified	Criteria Provided Conflicting Classifications	CA16606775	rs_1057521137	5 SubmittersRCV000443171 RCV000675102 RCV003987533
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)	SNV Germline	Chr15:72375818	Pathogenic	Condition: not provided Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA16607860	rs_987036804	5 SubmittersRCV000430851 RCV000780337
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys)	SNV Germline	Chr15:72353108	Conflicting classifications of pathogenicity	Condition: not provided Tay-Sachs disease	Criteria Provided Conflicting Classifications	CA16620003	rs_1064794856	2 SubmittersRCV000485524 RCV000675092
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)	SNV Germline	Chr15:72375965	Conflicting classifications of pathogenicity	Tay-Sachs disease not specified Condition: not provided Intellectual disability HEXA-related disorder	Criteria Provided Conflicting Classifications	CA7645132	rs_374524755	10 SubmittersRCV000505693 RCV000781461 RCV000757370 RCV001252516 RCV003902807
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)	SNV Germline	Chr15:72375740	Pathogenic/Likely pathogenic	Condition: not provided Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA7645087	rs_769035623	6 SubmittersRCV000520763 RCV000984274
NM_000520.6(HEXA):c.460-1G>T	SNV Germline	Chr15:72353179	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA7644986	rs_764343937	6 SubmittersRCV000586741
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)	SNV Germline	Chr15:72375786	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA393070244	rs_759092928	4 SubmittersRCV000586108
NM_000520.6(HEXA):c.1A>T (p.Met1Leu)	SNV Germline	Chr15:72375972	Pathogenic	Condition: not provided Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA393070916	rs_121907965	2 SubmittersRCV000596803 RCV003502538
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	SNV Germline	Chr15:72350569	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts	CA7644905	rs_566580738	9 SubmittersRCV000625807
NM_000520.6(HEXA):c.1526+2T>C	SNV Unknown	Chr15:72345444	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_1555472262	1 SubmittersRCV000674778
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)	SNV Germline	Chr15:72346295	Conflicting classifications of pathogenicity	Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_1229811721	3 SubmittersRCV000670986
NM_000520.6(HEXA):c.346+1G>T	SNV Germline	Chr15:72356524	Pathogenic/Likely pathogenic	Tay-Sachs disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_797044432	3 SubmittersRCV000672317 RCV002458186
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)	SNV Germline	Chr15:72346626	Conflicting classifications of pathogenicity	Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_575121167	4 SubmittersRCV000670546 RCV000865978
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)	SNV Germline	Chr15:72346689	Pathogenic/Likely pathogenic	Tay-Sachs disease not specified Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_988192535	6 SubmittersRCV000666873 RCV001002233 RCV002466558
NM_000520.6(HEXA):c.1146+18A>G	SNV Germline	Chr15:72347668	Conflicting classifications of pathogenicity	Tay-Sachs disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_1555472543	3 SubmittersRCV000669027 RCV001811437
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)	SNV Germline	Chr15:72350587	Conflicting classifications of pathogenicity	Tay-Sachs disease not specified	Criteria Provided Conflicting Classifications		rs_758166013	5 SubmittersRCV000668656 RCV001805791
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)	SNV Germline	Chr15:72351198	Conflicting classifications of pathogenicity	Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_1002712424	2 SubmittersRCV000672016
NM_000520.6(HEXA):c.1526+1G>T	SNV Germline	Chr15:72345445	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_1309204908	2 SubmittersRCV000669977
NM_000520.6(HEXA):c.1421+15G>C	SNV Germline	Chr15:72346220	Conflicting classifications of pathogenicity	Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_185764548	3 SubmittersRCV000667931
NM_000520.6(HEXA):c.1421+1G>T	SNV Germline	Chr15:72346234	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_147324677	3 SubmittersRCV000670361
NM_000520.6(HEXA):c.1073+1G>T	SNV Unknown	Chr15:72348047	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_76173977	1 SubmittersRCV000665014
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)	SNV Germline	Chr15:72375864	Conflicting classifications of pathogenicity	Tay-Sachs disease Tay-Sachs disease Tay-Sachs disease, variant AB	Criteria Provided Conflicting Classifications		rs_759157781	3 SubmittersRCV000672419 RCV001250237
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter)	SNV Germline	Chr15:72375882	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_556872918	2 SubmittersRCV000665649
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter)	SNV Germline	Chr15:72375953	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_751546658	2 SubmittersRCV000670413
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)	SNV Germline	Chr15:72345461	Conflicting classifications of pathogenicity	Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_121907955	2 SubmittersRCV000671879
NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter)	SNV Unknown	Chr15:72345470	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_1555472270	1 SubmittersRCV000666442
NM_000520.6(HEXA):c.1422-1G>T	SNV Germline	Chr15:72345551	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555472296	2 SubmittersRCV000671552
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)	SNV Germline	Chr15:72346263	Conflicting classifications of pathogenicity	Tay-Sachs disease Condition: not provided Inborn genetic diseases HEXA-related disorder	Criteria Provided Conflicting Classifications		rs_750727201	7 SubmittersRCV000670916 RCV001592851 RCV002531267 RCV003907933
NM_000520.6(HEXA):c.1073+41C>T	SNV Germline	Chr15:72348007	Conflicting classifications of pathogenicity	Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_367719010	2 SubmittersRCV000670880
NM_000520.6(HEXA):c.346+1G>A	SNV Germline	Chr15:72356524	Pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_797044432	5 SubmittersRCV000672344
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)	SNV Germline	Chr15:72375834	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_745996955	2 SubmittersRCV000669356
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)	SNV Germline	Chr15:72375901	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_1555475519	2 SubmittersRCV000673606
NM_000520.6(HEXA):c.571-1G>T	SNV Germline	Chr15:72351235	Pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_185429231	5 SubmittersRCV000689539
NM_000520.6(HEXA):c.1A>C (p.Met1Leu)	SNV Germline	Chr15:72375972	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_121907965	2 SubmittersRCV000758203
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)	SNV Germline	Chr9:132329199	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Inborn genetic diseases Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_761725498	4 SubmittersRCV000820064 RCV001311798 RCV002442748 RCV002290467
NM_000520.6(HEXA):c.3G>A (p.Met1Ile)	SNV Germline	Chr15:72375970	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_1595816410	1 SubmittersRCV000798879
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter)	SNV Germline	Chr15:72353720	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_1595802191	1 SubmittersRCV000820139
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)	SNV Germline	Chr15:72351133	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_780134593	1 SubmittersRCV000810754
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)	SNV Germline	Chr15:72375941	Conflicting classifications of pathogenicity	not specified Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_141120074	3 SubmittersRCV001002232 RCV001827157
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)	SNV Germline	Chr15:72349259	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088664194	2 SubmittersRCV001044397
NM_000520.6(HEXA):c.1147-1G>T	SNV Germline	Chr15:72346711	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088620169	1 SubmittersRCV001261543
NM_000520.6(HEXA):c.347A>G (p.Tyr116Cys)	SNV Germline	Chr15:72355624	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_1282031681	1 SubmittersRCV001175332
NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter)	SNV Germline	Chr15:72345528	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_121907952	1 SubmittersRCV001175333
NM_000520.6(HEXA):c.413-2A>G	SNV Germline	Chr15:72353739	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_2088733862	2 SubmittersRCV001193756
NM_000520.6(HEXA):c.460-19C>T	SNV Germline	Chr15:72353197	Conflicting classifications of pathogenicity	Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_1680245631	2 SubmittersRCV001198815
NM_000520.6(HEXA):c.254-2A>G	SNV Germline	Chr15:72356619	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088785868	1 SubmittersRCV001213868
NM_000520.6(HEXA):c.1123G>T (p.Glu375Ter)	SNV Unknown	Chr15:72347709	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088635332	1 SubmittersRCV001263877
NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter)	SNV Unknown	Chr15:72347712	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_1415609256	1 SubmittersRCV001263878
NM_000520.6(HEXA):c.1119G>A (p.Trp373Ter)	SNV Unknown	Chr15:72347713	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088635505	1 SubmittersRCV001263879
NM_000520.6(HEXA):c.1118G>A (p.Trp373Ter)	SNV Unknown	Chr15:72347714	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088635583	1 SubmittersRCV001263880
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)	SNV Germline	Chr15:72347734	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_979690054	2 SubmittersRCV001263881
NM_000520.6(HEXA):c.1024A>T (p.Lys342Ter)	SNV Unknown	Chr15:72348097	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_1322698222	1 SubmittersRCV001264041
NM_000520.6(HEXA):c.958G>T (p.Gly320Ter)	SNV Unknown	Chr15:72349107	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088660599	1 SubmittersRCV001264042
NM_000520.6(HEXA):c.451G>T (p.Glu151Ter)	SNV Unknown	Chr15:72353699	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088732981	1 SubmittersRCV001264043
NM_000520.6(HEXA):c.370C>T (p.Gln124Ter)	SNV Unknown	Chr15:72355601	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088766427	1 SubmittersRCV001264044
NM_000520.6(HEXA):c.284T>A (p.Leu95Ter)	SNV Unknown	Chr15:72356587	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2088784856	1 SubmittersRCV001264045
NM_000520.6(HEXA):c.103C>T (p.Gln35Ter)	SNV Germline	Chr15:72375870	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2089059318	1 SubmittersRCV001269254
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)	SNV Germline	Chr15:72349103	Conflicting classifications of pathogenicity	not specified Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_1316178162	2 SubmittersRCV001280549 RCV001871610
NM_000520.6(HEXA):c.1171G>A (p.Val391Met)	SNV Germline	Chr15:72346686	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140320821	1 SubmittersRCV001378981
NM_000520.6(HEXA):c.986+1G>A	SNV Germline	Chr15:72349078	Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_2140322856	3 SubmittersRCV001379765
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)	SNV Germline	Chr15:72347734	Pathogenic/Likely pathogenic	Tay-Sachs disease	Criteria Provided Multiple Submitters No Conflicts		rs_979690054	2 SubmittersRCV001381293
NM_000520.6(HEXA):c.1073+1G>C	SNV Germline	Chr15:72348047	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_76173977	1 SubmittersRCV001390151
NM_000520.6(HEXA):c.755G>A (p.Arg252His)	SNV Germline	Chr15:72350568	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_762255098	1 SubmittersRCV001388252
NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)	SNV Germline	Chr5:151253220	Likely pathogenic	Tay-Sachs disease, variant AB	Criteria Provided Single Submitter		rs_775585062	1 SubmittersRCV001782204
NM_000520.6(HEXA):c.917T>G (p.Leu306Ter)	SNV Germline	Chr15:72349148	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_1567297439	1 SubmittersRCV001937008
NM_000520.6(HEXA):c.459+1G>A	SNV Germline	Chr15:72353690	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140326761	1 SubmittersRCV002019285
NM_000520.6(HEXA):c.1330+2T>C	SNV Germline	Chr15:72346525	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140320568	1 SubmittersRCV001889538
NM_000520.6(HEXA):c.672+2T>C	SNV Germline	Chr15:72351131	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140324625	1 SubmittersRCV001928765
NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter)	SNV Germline	Chr15:72375829	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140344619	1 SubmittersRCV002000073
NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter)	SNV Germline	Chr15:72345517	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140319619	1 SubmittersRCV001994458
NM_000520.6(HEXA):c.995A>T (p.Asn332Ile)	SNV Germline	Chr15:72348126	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140322212	1 SubmittersRCV001995718
NM_000520.6(HEXA):c.570G>T (p.Leu190=)	SNV Germline	Chr15:72353068	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_1188885214	1 SubmittersRCV001914831
NM_000520.6(HEXA):c.986+1G>C	SNV Germline	Chr15:72349078	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140322856	1 SubmittersRCV002022381
NM_000520.6(HEXA):c.412+1G>T	SNV Germline/somatic	Chr15:72355558	Likely pathogenic	Condition: not provided Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140328162	2 SubmittersRCV002261481 RCV003502613
NM_000520.6(HEXA):c.604C>T (p.His202Tyr)	SNV Germline	Chr15:72351201	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter		rs_2140324712	1 SubmittersRCV002275722
NM_000520.6(HEXA):c.786C>G (p.His262Gln)	SNV Germline	Chr15:72350537	Likely pathogenic	Tay-Sachs disease	No Assertion Criteria Provided			1 SubmittersRCV003149021
NM_000520.6(HEXA):c.766G>T (p.Glu256Ter)	SNV Unknown	Chr15:72350557	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002306612
NM_000520.6(HEXA):c.609G>A (p.Trp203Ter)	SNV Unknown	Chr15:72351196	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002309679
NM_000520.6(HEXA):c.1260G>A (p.Trp420Ter)	SNV Unknown	Chr15:72346597	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002309775
NM_000520.6(HEXA):c.735C>A (p.Tyr245Ter)	SNV Unknown	Chr15:72350588	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002309955
NM_000520.6(HEXA):c.814G>T (p.Gly272Ter)	SNV Unknown	Chr15:72349251	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002308093
NM_000520.6(HEXA):c.718A>T (p.Lys240Ter)	SNV Unknown	Chr15:72350605	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002309008
NM_000520.6(HEXA):c.844G>T (p.Glu282Ter)	SNV Unknown	Chr15:72349221	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002309233
NM_000520.6(HEXA):c.1342C>T (p.Gln448Ter)	SNV Unknown	Chr15:72346314	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002307010
NM_000520.6(HEXA):c.1294A>T (p.Lys432Ter)	SNV Unknown	Chr15:72346563	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002310235
NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)	SNV Germline	Chr15:72344130	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003058479
NM_000520.6(HEXA):c.1422-2A>G	SNV Germline	Chr15:72345552	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003064288
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)	SNV Germline	Chr15:72349100	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003041241
NM_000520.6(HEXA):c.570G>A (p.Leu190=)	SNV Germline	Chr15:72353068	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003041243
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)	SNV Germline	Chr15:72355592	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003064289
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter)	SNV Germline	Chr15:72346267	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003082780
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)	SNV Germline	Chr15:72346274	Conflicting classifications of pathogenicity	Tay-Sachs disease not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003100466 RCV003491243
NM_000520.6(HEXA):c.459+24G>C	SNV Germline	Chr15:72353667	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002640625
NM_000520.6(HEXA):c.967G>T (p.Glu323Ter)	SNV Germline	Chr15:72349098	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002629749
NM_000520.6(HEXA):c.1526+1G>A	SNV Germline	Chr15:72345445	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002780783
NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)	SNV Germline	Chr15:72345481	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002834041
NM_000520.6(HEXA):c.413-1G>A	SNV Germline	Chr15:72353738	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV002857792
NM_000520.6(HEXA):c.1030T>A (p.Phe344Ile)	SNV Germline	Chr15:72348091	Likely pathogenic	Tay-Sachs disease	No Assertion Criteria Provided			1 SubmittersRCV003111523
NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)	SNV Germline	Chr15:72350545	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003155632
NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)	SNV Germline	Chr5:151266851	Likely pathogenic	Tay-Sachs disease, variant AB	Criteria Provided Single Submitter			1 SubmittersRCV003335828
NM_000520.6(HEXA):c.617T>A (p.Val206Glu)	SNV Unknown	Chr15:72351188	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003405194
NM_000405.5(GM2A):c.427-14T>A	SNV Germline	Chr5:151267282	Likely pathogenic	Tay-Sachs disease, variant AB	Criteria Provided Single Submitter			1 SubmittersRCV003445451
NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter)	SNV Germline	Chr15:72346564	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003502866
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)	SNV Germline	Chr15:72346293	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003502015
NM_000520.6(HEXA):c.986G>A (p.Trp329Ter)	SNV Germline	Chr15:72349079	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003502016
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)	SNV Germline	Chr15:72349251	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003502017
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)	SNV Germline	Chr15:72348125	Conflicting classifications of pathogenicity	Tay-Sachs disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV003502409
NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)	SNV Germline	Chr15:72353709	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003503292
NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)	SNV Germline	Chr15:72349231	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003503269
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)	SNV Germline	Chr15:72350526	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003503330
NM_000520.6(HEXA):c.254-1G>C	SNV Germline	Chr15:72356618	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003609380
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)	SNV Germline	Chr15:72351167	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003609471
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)	SNV Germline	Chr15:72348052	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003610131
NM_000520.6(HEXA):c.460-2A>G	SNV Germline	Chr15:72353180	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003610345
NM_000520.6(HEXA):c.3G>T (p.Met1Ile)	SNV Germline	Chr15:72375970	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003610445
NM_000520.6(HEXA):c.672+1G>T	SNV Germline	Chr15:72351132	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003609860
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)	SNV Germline	Chr15:72348090	Likely pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003609759
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)	SNV Germline	Chr15:72349100	Pathogenic	Tay-Sachs disease	Criteria Provided Single Submitter			1 SubmittersRCV003825713

NM_000405.5(GM2A):c.412T>C (p.Cys138Arg)

SNV
Germline

Chr5:151266899

Pathogenic

Tay-Sachs disease, variant AB

No Assertion Criteria Provided

CA114233

rs_137852797

1 SubmittersRCV000000421

NM_000405.5(GM2A):c.506G>C (p.Arg169Pro)

SNV
Germline

Chr5:151267375

Pathogenic

Tay-Sachs disease, variant AB

No Assertion Criteria Provided

CA114235

rs_104893892

1 SubmittersRCV000000422

NM_000405.5(GM2A):c.160G>T (p.Glu54Ter)

SNV
Germline

Chr5:151259833

Pathogenic

Tay-Sachs disease, variant AB

No Assertion Criteria Provided

CA114236

rs_104893897

1 SubmittersRCV000000425

NM_000520.6(HEXA):c.1421+1G>C

SNV
Germline

Chr15:72346234

Pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252904

rs_147324677

10 SubmittersRCV000004094 RCV000255737

NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)

SNV
Germline

Chr15:72345528

Pathogenic/Likely pathogenic

Tay-Sachs disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252906

rs_121907952

7 SubmittersRCV000004096 RCV002512734 RCV003480020

NM_000520.6(HEXA):c.346+1G>C

SNV
Germline

Chr15:72356524

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA252907

rs_797044432

5 SubmittersRCV000004097

NM_000520.6(HEXA):c.1511G>A (p.Arg504His)

SNV
Germline

Chr15:72345461

Pathogenic/Likely pathogenic

Gm2-gangliosidosis, juvenile
Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116497

rs_121907955

9 SubmittersRCV000004099 RCV000409695 RCV001800288

NM_000520.6(HEXA):c.533G>A (p.Arg178His)

SNV
Germline

Chr15:72353105

Pathogenic/Likely pathogenic

Tay-Sachs disease, B1 variant
Hexa, dn allele
Tay-Sachs disease
Condition: not provided
Global developmental delay
Inborn genetic diseases
HEXA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116498

rs_28941770

20 SubmittersRCV000004100 RCV000004101 RCV000409508 RCV000396083 RCV001255389 RCV002345228 RCV003964792

NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)

SNV
Germline

Chr15:72353106

Pathogenic

Tay-Sachs disease, B1 variant
Tay-Sachs disease

Criteria Provided
Single Submitter

CA116499

rs_121907953

4 SubmittersRCV000004102 RCV000416435

NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)

SNV
Germline

Chr15:72350518

Pathogenic/Likely pathogenic

Gm2-gangliosidosis, adult
Tay-Sachs disease
Condition: not provided
Inborn genetic diseases
HEXA-related disorder
Gm2-gangliosidosis, late onset

Criteria Provided
Multiple Submitters
No Conflicts

CA116500

rs_121907954

22 SubmittersRCV000004104 RCV000168285 RCV000434025 RCV002408450 RCV003924800 RCV001810397

NM_000520.6(HEXA):c.1496G>A (p.Arg499His)

SNV
Germline

Chr15:72345476

Pathogenic

Gm2-gangliosidosis, juvenile
Inborn genetic diseases
Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116501

rs_121907956

16 SubmittersRCV000004105 RCV000210735 RCV000338961 RCV000520531

NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)

SNV
Germline

Chr15:72353129

Pathogenic/Likely pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252909

rs_121907957

8 SubmittersRCV000004106 RCV000336253

NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)

SNV
Germline

Chr15:72346597

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA252910

rs_121907958

2 SubmittersRCV000004107

NM_000520.6(HEXA):c.749G>A (p.Gly250Asp)

SNV
Germline

Chr15:72350574

Likely pathogenic

Tay-sachs disease, juvenile
Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA116502

rs_121907959

3 SubmittersRCV000004108 RCV002226437

NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)

SNV
Germline

Chr15:72355562

Pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252914

rs_121907962

8 SubmittersRCV000004110 RCV000255817

NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)

SNV
Germline

Chr15:72346680

Pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252916

rs_121907963

7 SubmittersRCV000004111 RCV000522695

NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)

SNV
Germline

Chr15:72345462

Pathogenic/Likely pathogenic

Gm2-gangliosidosis, chronic
Tay-Sachs disease
not specified
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116503

rs_28942071

10 SubmittersRCV000004112 RCV000169084 RCV001000970 RCV001508769

NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)

SNV
Germline

Chr15:72351176

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA252918

rs_121907961

2 SubmittersRCV000004114

NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)

SNV
Germline

Chr15:72375895

Pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA252919

rs_121907964

4 SubmittersRCV000004117

NM_000520.6(HEXA):c.533G>T (p.Arg178Leu)

SNV
Germline

Chr15:72353105

Likely pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Single Submitter

CA252921

rs_28941770

2 SubmittersRCV000004118 RCV003476891

NM_000520.6(HEXA):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:72375972

Pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA252922

rs_121907965

5 SubmittersRCV000004120

NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)

SNV
Germline

Chr15:72345477

Pathogenic/Likely pathogenic

GM2-gangliosidosis, adult-onset
Tay-Sachs disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA116504

rs_121907966

8 SubmittersRCV000004121 RCV000169417 RCV002390089

NM_000520.6(HEXA):c.987G>A (p.Trp329Ter)

SNV
Germline

Chr15:72348134

Likely pathogenic

Gm2-gangliosidosis, variant b1
Tay-Sachs disease

Criteria Provided
Single Submitter

CA116505

rs_121907967

2 SubmittersRCV000004122 RCV002281692

NM_000520.6(HEXA):c.1073+1G>A

SNV
Germline/somatic

Chr15:72348047

Pathogenic/Likely pathogenic

Tay-Sachs disease
Condition: not provided
Inborn genetic diseases
HEXA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA221064

rs_76173977

20 SubmittersRCV000004126 RCV000079047 RCV002415396 RCV003952341

NM_000520.6(HEXA):c.772G>C (p.Asp258His)

SNV
Germline

Chr15:72350551

Pathogenic/Likely pathogenic

Tay-Sachs disease, B1 variant
Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116509

rs_121907971

5 SubmittersRCV000004130 RCV000801596 RCV001810829

NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)

SNV
Germline

Chr15:72353130

Pathogenic/Likely pathogenic

Tay-Sachs disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA252927

rs_121907972

11 SubmittersRCV000004131 RCV002345229

NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)

SNV
Germline

Chr15:72351215

Conflicting classifications of pathogenicity

Gm2-gangliosidosis, late onset
Tay-Sachs disease
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA116510

rs_121907973

6 SubmittersRCV000004133 RCV000674617 RCV001508770 RCV001797585

NM_000520.6(HEXA):c.672+1G>A

SNV
Germline

Chr15:72351132

Pathogenic/Likely pathogenic

Tay-sachs disease, juvenile/adult
Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116511

rs_387906311

6 SubmittersRCV000004134 RCV000412214 RCV000432194

NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)

SNV
Germline

Chr15:72355591

Pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA252929

rs_121907975

3 SubmittersRCV000004136

NM_000520.6(HEXA):c.611A>G (p.His204Arg)

SNV
Germline

Chr15:72351194

Conflicting classifications of pathogenicity

Tay-Sachs disease
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA252930

rs_121907976

5 SubmittersRCV000004137 RCV001778646 RCV002054413

NM_000520.6(HEXA):c.902T>G (p.Met301Arg)

SNV
Germline

Chr15:72349163

Conflicting classifications of pathogenicity

Tay-Sachs disease
Tay-Sachs disease
Tay-Sachs disease, variant AB

Criteria Provided
Conflicting Classifications

CA252931

rs_121907977

6 SubmittersRCV000004139 RCV001250228

NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser)

SNV
Germline

Chr15:72346296

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA252932

rs_121907978

2 SubmittersRCV000004140

NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter)

SNV
Germline

Chr15:72346681

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA252934

rs_267606862

2 SubmittersRCV000004142

NM_000520.6(HEXA):c.805+1G>A

SNV
Germline

Chr15:72350517

Pathogenic

Tay-Sachs disease
HEXA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116512

rs_121907980

7 SubmittersRCV000409276 RCV003944800

NM_000520.6(HEXA):c.538T>C (p.Tyr180His)

SNV
Germline

Chr15:72353100

Likely pathogenic

Gm2-gangliosidosis, late onset
Tay-Sachs disease

Criteria Provided
Single Submitter

CA116513

rs_28941771

2 SubmittersRCV000004145 RCV002512735

NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)

SNV
Germline

Chr15:72345550

Pathogenic/Likely pathogenic

Gm2-gangliosidosis, subacute
Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA116514

rs_121907981

4 SubmittersRCV000004147 RCV001244261

NM_000520.6(HEXA):c.972T>A (p.Val324=)

SNV
Germline

Chr15:72349093

Conflicting classifications of pathogenicity

Gm2-gangliosidosis, subacute
Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA116515

rs_28942072

4 SubmittersRCV000004149 RCV001781173 RCV003332074

NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)

SNV
Germline

Chr17:43094569

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Tay-Sachs disease
Long QT syndrome

Reviewed By Expert Panel

CA003986

rs_80357292

19 SubmittersRCV000031293 RCV000049204 RCV000162891 RCV000159948 RCV000239176 RCV000735517 RCV004526601 RCV004541032

NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)

SNV
Germline

Chr15:72346259

Conflicting classifications of pathogenicity

Condition: not provided
Tay-Sachs disease

Criteria Provided
Conflicting Classifications

CA221065

rs_200936836

4 SubmittersRCV000079050 RCV000377261

NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)

SNV
Germline

Chr15:72346552

Pathogenic/Likely pathogenic

Tay-Sachs disease
Inborn genetic diseases
Leukodystrophy
Seizure
Hearing impairment

Criteria Provided
Multiple Submitters
No Conflicts

CA267587

rs_587779406

8 SubmittersRCV000087095 RCV000624856 RCV002243757

NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)

SNV
Germline

Chr15:72350578

Conflicting classifications of pathogenicity; other

Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276005

rs_138058578

5 SubmittersRCV000190592 RCV000375852

NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)

SNV
Germline

Chr15:72344139

Pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274177

rs_786204585

7 SubmittersRCV000169328 RCV000421085

NM_000520.6(HEXA):c.986+3A>G

SNV
Germline

Chr15:72349076

Pathogenic/Likely pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274144

rs_200926928

8 SubmittersRCV000169296 RCV003441767

NM_000520.6(HEXA):c.570+1G>A

SNV
Germline

Chr15:72353067

Pathogenic/Likely pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274467

rs_786204754

3 SubmittersRCV000169610 RCV002478524

NM_000520.6(HEXA):c.2T>C (p.Met1Thr)

SNV
Germline

Chr15:72375971

Pathogenic/Likely pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274405

rs_786204721

11 SubmittersRCV000169541 RCV000255876

NM_000520.6(HEXA):c.1527-6T>C

SNV
Germline

Chr15:72344146

Conflicting classifications of pathogenicity

not specified
Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA240243

rs_199914308

10 SubmittersRCV000246203 RCV000462401 RCV000724516

NM_000520.6(HEXA):c.536A>G (p.His179Arg)

SNV
Germline

Chr15:72353102

Conflicting classifications of pathogenicity

Condition: not provided
Tay-Sachs disease

Criteria Provided
Conflicting Classifications

CA245951

rs_747372270

4 SubmittersRCV000520360 RCV001832027

NM_000520.6(HEXA):c.806-7G>A

SNV
Germline

Chr15:72349266

Conflicting classifications of pathogenicity

Gm2-gangliosidosis, chronic
Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276145

rs_770932296

9 SubmittersRCV000004146 RCV000191092 RCV001582679

NM_000520.6(HEXA):c.1385A>T (p.Glu462Val)

SNV
Germline

Chr15:72346271

Pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA279889

rs_863225434

2 SubmittersRCV000202369

NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)

SNV
Germline

Chr15:72356531

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10575831

rs_748190164

2 SubmittersRCV000203235

NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro)

SNV
Germline

Chr15:72346679

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA277861

rs_370266293

1 SubmittersRCV000202576

NM_000520.6(HEXA):c.964G>A (p.Asp322Asn)

SNV
Germline

Chr15:72349101

Pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA074928

rs_772180415

2 SubmittersRCV000207246

NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)

SNV
Germline

Chr15:72349101

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA074642

rs_772180415

6 SubmittersRCV000207019

NM_000520.6(HEXA):c.673-13T>C

SNV
Germline

Chr15:72350663

Conflicting classifications of pathogenicity

Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7644917

rs_75211071

4 SubmittersRCV000408347 RCV001613017

NM_000520.6(HEXA):c.346+13C>T

SNV
Germline

Chr15:72356512

Conflicting classifications of pathogenicity

Tay-Sachs disease
not specified
HEXA-related disorder

Criteria Provided
Conflicting Classifications

CA7645037

rs_200871198

5 SubmittersRCV000299684 RCV001797704 RCV003957638

NM_000520.6(HEXA):c.1421+14G>C

SNV
Germline

Chr15:72346221

Conflicting classifications of pathogenicity

Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7644697

rs_201497629

4 SubmittersRCV000345918 RCV001812835

NM_000520.6(HEXA):c.-4G>A

SNV
Germline

Chr15:72375976

Conflicting classifications of pathogenicity

Tay-Sachs disease
Condition: not provided
HEXA-related disorder

Criteria Provided
Conflicting Classifications

CA7645136

rs_766510036

6 SubmittersRCV000363844 RCV000675470 RCV003910198

NM_000520.5(HEXA):c.-59G>A

SNV
Germline

Chr15:72376031

Conflicting classifications of pathogenicity

Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10646584

rs_147174351

3 SubmittersRCV000269335 RCV001836765

NM_000520.6(HEXA):c.1216C>T (p.Leu406=)

SNV
Germline

Chr15:72346641

Conflicting classifications of pathogenicity

Tay-Sachs disease
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7644756

rs_140482769

5 SubmittersRCV000342855 RCV003165854 RCV004546480

NM_000520.6(HEXA):c.1107C>T (p.Gly369=)

SNV
Germline

Chr15:72347725

Conflicting classifications of pathogenicity

Tay-Sachs disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7644800

rs_140337137

7 SubmittersRCV000298559 RCV000860701 RCV002450874

NM_000520.5(HEXA):c.-167G>A

SNV
Germline

Chr15:72376139

Conflicting classifications of pathogenicity

Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10647380

rs_77707876

3 SubmittersRCV000265963 RCV001567832

NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)

SNV
Germline

Chr15:72346235

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041733

rs_762374961

3 SubmittersRCV000409611

NM_000520.6(HEXA):c.1330+1G>A

SNV
Germline

Chr15:72346526

Pathogenic

Tay-Sachs disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7644735

rs_767041069

6 SubmittersRCV000410148 RCV000438026

NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter)

SNV
Unknown

Chr15:72346707

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA16041734

rs_1057516617

1 SubmittersRCV000411081

NM_000520.6(HEXA):c.806-1G>C

SNV
Unknown

Chr15:72349260

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA16041736

rs_1057516908

1 SubmittersRCV000411061

NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr15:72350614

Pathogenic/Likely pathogenic

Tay-Sachs disease
HEXA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16041737

rs_150675340

4 SubmittersRCV000411560 RCV003401387

NM_000520.6(HEXA):c.253+1G>A

SNV
Germline

Chr15:72375719

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA7645084

rs_770093080

2 SubmittersRCV000411110

NM_000520.6(HEXA):c.196C>T (p.Gln66Ter)

SNV
Unknown

Chr15:72375777

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA16041740

rs_1057516957

1 SubmittersRCV000411228

NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)

SNV
Germline

Chr15:72375891

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA7645115

rs_751393950

3 SubmittersRCV000410898

NM_000520.6(HEXA):c.26C>A (p.Ser9Ter)

SNV
Germline

Chr15:72375947

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041743

rs_769370282

2 SubmittersRCV000409696

NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu)

SNV
Germline

Chr15:72346555

Conflicting classifications of pathogenicity

Condition: not provided
Tay-Sachs disease

Criteria Provided
Conflicting Classifications

CA16043770

rs_202173526

3 SubmittersRCV000415737 RCV002521471

NM_000520.6(HEXA):c.459+5G>A

SNV
Germline

Chr15:72353686

Pathogenic/Likely pathogenic

Condition: not provided
Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA7645005

rs_762060470

8 SubmittersRCV000416159 RCV000416449

NM_000405.5(GM2A):c.244-2A>T

SNV
Germline

Chr5:151266729

Likely pathogenic

Tay-Sachs disease, variant AB

No Assertion Criteria Provided

CA16044025

rs_1057519022

1 SubmittersRCV000416363

NM_000405.5(GM2A):c.472G>T (p.Glu158Ter)

SNV
Germline

Chr5:151267341

Likely pathogenic

Tay-Sachs disease, variant AB

No Assertion Criteria Provided

CA16044026

rs_1057519021

1 SubmittersRCV000416329

NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)

SNV
Germline

Chr15:72345518

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA16044196

rs_1057519468

3 SubmittersRCV000416424

NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)

SNV
Germline

Chr15:72345540

Pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

CA16044197

rs_1057519467

1 SubmittersRCV000416475

NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg)

SNV
Germline

Chr15:72346296

Likely pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

CA16044198

rs_121907978

1 SubmittersRCV000416429

NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter)

SNV
Germline

Chr15:72346598

Likely pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

CA16044200

rs_1057519465

1 SubmittersRCV000416427

NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro)

SNV
Germline

Chr15:72347711

Pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

CA16044201

rs_1057519464

1 SubmittersRCV000416466

NM_000520.6(HEXA):c.805+1G>C

SNV
Germline

Chr15:72350517

Pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16044203

rs_121907980

7 SubmittersRCV000416460

NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)

SNV
Germline

Chr15:72350518

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16044204

rs_121907954

3 SubmittersRCV000416443

NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)

SNV
Germline

Chr15:72350535

Conflicting classifications of pathogenicity

Tay-Sachs disease
not specified

Criteria Provided
Conflicting Classifications

CA16044205

rs_1057519462

4 SubmittersRCV000416422 RCV003323529

NM_000520.6(HEXA):c.637T>C (p.Tyr213His)

SNV
Germline

Chr15:72351168

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

CA16044206

rs_1057519461

2 SubmittersRCV000416415

NM_000520.6(HEXA):c.616G>C (p.Val206Leu)

SNV
Germline

Chr15:72351189

Likely pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

CA16044207

rs_543071358

1 SubmittersRCV000416461

NM_000520.6(HEXA):c.524A>C (p.Asp175Ala)

SNV
Germline

Chr15:72353114

Pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

CA16044208

rs_1057519460

1 SubmittersRCV000416473

NM_000520.6(HEXA):c.460-1G>A

SNV
Germline

Chr15:72353179

Likely pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

CA16044209

rs_764343937

1 SubmittersRCV000416480

NM_000520.6(HEXA):c.459+4A>C

SNV
Germline

Chr15:72353687

Pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

CA16044210

rs_1057519459

1 SubmittersRCV000416426

NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr15:72356555

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA7645041

rs_773446161

4 SubmittersRCV000416452

NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)

SNV
Germline

Chr15:72350575

Conflicting classifications of pathogenicity

Condition: not provided
Tay-Sachs disease
not specified

Criteria Provided
Conflicting Classifications

CA16606775

rs_1057521137

5 SubmittersRCV000443171 RCV000675102 RCV003987533

NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)

SNV
Germline

Chr15:72375818

Pathogenic

Condition: not provided
Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16607860

rs_987036804

5 SubmittersRCV000430851 RCV000780337

NM_000520.6(HEXA):c.530C>G (p.Ser177Cys)

SNV
Germline

Chr15:72353108

Conflicting classifications of pathogenicity

Condition: not provided
Tay-Sachs disease

Criteria Provided
Conflicting Classifications

CA16620003

rs_1064794856

2 SubmittersRCV000485524 RCV000675092

NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)

SNV
Germline

Chr15:72375965

Conflicting classifications of pathogenicity

Tay-Sachs disease
not specified
Condition: not provided
Intellectual disability
HEXA-related disorder

Criteria Provided
Conflicting Classifications

CA7645132

rs_374524755

10 SubmittersRCV000505693 RCV000781461 RCV000757370 RCV001252516 RCV003902807

NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)

SNV
Germline

Chr15:72375740

Pathogenic/Likely pathogenic

Condition: not provided
Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA7645087

rs_769035623

6 SubmittersRCV000520763 RCV000984274

NM_000520.6(HEXA):c.460-1G>T

SNV
Germline

Chr15:72353179

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA7644986

rs_764343937

6 SubmittersRCV000586741

NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)

SNV
Germline

Chr15:72375786

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA393070244

rs_759092928

4 SubmittersRCV000586108

NM_000520.6(HEXA):c.1A>T (p.Met1Leu)

SNV
Germline

Chr15:72375972

Pathogenic

Condition: not provided
Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA393070916

rs_121907965

2 SubmittersRCV000596803 RCV003502538

NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)

SNV
Germline

Chr15:72350569

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

CA7644905

rs_566580738

9 SubmittersRCV000625807

NM_000520.6(HEXA):c.1526+2T>C

SNV
Unknown

Chr15:72345444

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_1555472262

1 SubmittersRCV000674778

NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)

SNV
Germline

Chr15:72346295

Conflicting classifications of pathogenicity

Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_1229811721

3 SubmittersRCV000670986

NM_000520.6(HEXA):c.346+1G>T

SNV
Germline

Chr15:72356524

Pathogenic/Likely pathogenic

Tay-Sachs disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_797044432

3 SubmittersRCV000672317 RCV002458186

NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)

SNV
Germline

Chr15:72346626

Conflicting classifications of pathogenicity

Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_575121167

4 SubmittersRCV000670546 RCV000865978

NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)

SNV
Germline

Chr15:72346689

Pathogenic/Likely pathogenic

Tay-Sachs disease
not specified
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_988192535

6 SubmittersRCV000666873 RCV001002233 RCV002466558

NM_000520.6(HEXA):c.1146+18A>G

SNV
Germline

Chr15:72347668

Conflicting classifications of pathogenicity

Tay-Sachs disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1555472543

3 SubmittersRCV000669027 RCV001811437

NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)

SNV
Germline

Chr15:72350587

Conflicting classifications of pathogenicity

Tay-Sachs disease
not specified

Criteria Provided
Conflicting Classifications

rs_758166013

5 SubmittersRCV000668656 RCV001805791

NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)

SNV
Germline

Chr15:72351198

Conflicting classifications of pathogenicity

Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_1002712424

2 SubmittersRCV000672016

NM_000520.6(HEXA):c.1526+1G>T

SNV
Germline

Chr15:72345445

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1309204908

2 SubmittersRCV000669977

NM_000520.6(HEXA):c.1421+15G>C

SNV
Germline

Chr15:72346220

Conflicting classifications of pathogenicity

Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_185764548

3 SubmittersRCV000667931

NM_000520.6(HEXA):c.1421+1G>T

SNV
Germline

Chr15:72346234

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_147324677

3 SubmittersRCV000670361

NM_000520.6(HEXA):c.1073+1G>T

SNV
Unknown

Chr15:72348047

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_76173977

1 SubmittersRCV000665014

NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)

SNV
Germline

Chr15:72375864

Conflicting classifications of pathogenicity

Tay-Sachs disease
Tay-Sachs disease
Tay-Sachs disease, variant AB

Criteria Provided
Conflicting Classifications

rs_759157781

3 SubmittersRCV000672419 RCV001250237

NM_000520.6(HEXA):c.91C>T (p.Gln31Ter)

SNV
Germline

Chr15:72375882

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_556872918

2 SubmittersRCV000665649

NM_000520.6(HEXA):c.20G>A (p.Trp7Ter)

SNV
Germline

Chr15:72375953

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_751546658

2 SubmittersRCV000670413

NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)

SNV
Germline

Chr15:72345461

Conflicting classifications of pathogenicity

Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_121907955

2 SubmittersRCV000671879

NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter)

SNV
Unknown

Chr15:72345470

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_1555472270

1 SubmittersRCV000666442

NM_000520.6(HEXA):c.1422-1G>T

SNV
Germline

Chr15:72345551

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555472296

2 SubmittersRCV000671552

NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)

SNV
Germline

Chr15:72346263

Conflicting classifications of pathogenicity

Tay-Sachs disease
Condition: not provided
Inborn genetic diseases
HEXA-related disorder

Criteria Provided
Conflicting Classifications

rs_750727201

7 SubmittersRCV000670916 RCV001592851 RCV002531267 RCV003907933

NM_000520.6(HEXA):c.1073+41C>T

SNV
Germline

Chr15:72348007

Conflicting classifications of pathogenicity

Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_367719010

2 SubmittersRCV000670880

NM_000520.6(HEXA):c.346+1G>A

SNV
Germline

Chr15:72356524

Pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_797044432

5 SubmittersRCV000672344

NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)

SNV
Germline

Chr15:72375834

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_745996955

2 SubmittersRCV000669356

NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)

SNV
Germline

Chr15:72375901

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555475519

2 SubmittersRCV000673606

NM_000520.6(HEXA):c.571-1G>T

SNV
Germline

Chr15:72351235

Pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_185429231

5 SubmittersRCV000689539

NM_000520.6(HEXA):c.1A>C (p.Met1Leu)

SNV
Germline

Chr15:72375972

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_121907965

2 SubmittersRCV000758203

NM_015046.7(SETX):c.2399G>T (p.Arg800Met)

SNV
Germline

Chr9:132329199

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases
Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_761725498

4 SubmittersRCV000820064 RCV001311798 RCV002442748 RCV002290467

NM_000520.6(HEXA):c.3G>A (p.Met1Ile)

SNV
Germline

Chr15:72375970

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_1595816410

1 SubmittersRCV000798879

NM_000520.6(HEXA):c.430C>T (p.Gln144Ter)

SNV
Germline

Chr15:72353720

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_1595802191

1 SubmittersRCV000820139

NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)

SNV
Germline

Chr15:72351133

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_780134593

1 SubmittersRCV000810754

NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)

SNV
Germline

Chr15:72375941

Conflicting classifications of pathogenicity

not specified
Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_141120074

3 SubmittersRCV001002232 RCV001827157

NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)

SNV
Germline

Chr15:72349259

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088664194

2 SubmittersRCV001044397

NM_000520.6(HEXA):c.1147-1G>T

SNV
Germline

Chr15:72346711

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088620169

1 SubmittersRCV001261543

NM_000520.6(HEXA):c.347A>G (p.Tyr116Cys)

SNV
Germline

Chr15:72355624

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_1282031681

1 SubmittersRCV001175332

NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter)

SNV
Germline

Chr15:72345528

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_121907952

1 SubmittersRCV001175333

NM_000520.6(HEXA):c.413-2A>G

SNV
Germline

Chr15:72353739

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2088733862

2 SubmittersRCV001193756

NM_000520.6(HEXA):c.460-19C>T

SNV
Germline

Chr15:72353197

Conflicting classifications of pathogenicity

Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_1680245631

2 SubmittersRCV001198815

NM_000520.6(HEXA):c.254-2A>G

SNV
Germline

Chr15:72356619

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088785868

1 SubmittersRCV001213868

NM_000520.6(HEXA):c.1123G>T (p.Glu375Ter)

SNV
Unknown

Chr15:72347709

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088635332

1 SubmittersRCV001263877

NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter)

SNV
Unknown

Chr15:72347712

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_1415609256

1 SubmittersRCV001263878

NM_000520.6(HEXA):c.1119G>A (p.Trp373Ter)

SNV
Unknown

Chr15:72347713

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088635505

1 SubmittersRCV001263879

NM_000520.6(HEXA):c.1118G>A (p.Trp373Ter)

SNV
Unknown

Chr15:72347714

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088635583

1 SubmittersRCV001263880

NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)

SNV
Germline

Chr15:72347734

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_979690054

2 SubmittersRCV001263881

NM_000520.6(HEXA):c.1024A>T (p.Lys342Ter)

SNV
Unknown

Chr15:72348097

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_1322698222

1 SubmittersRCV001264041

NM_000520.6(HEXA):c.958G>T (p.Gly320Ter)

SNV
Unknown

Chr15:72349107

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088660599

1 SubmittersRCV001264042

NM_000520.6(HEXA):c.451G>T (p.Glu151Ter)

SNV
Unknown

Chr15:72353699

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088732981

1 SubmittersRCV001264043

NM_000520.6(HEXA):c.370C>T (p.Gln124Ter)

SNV
Unknown

Chr15:72355601

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088766427

1 SubmittersRCV001264044

NM_000520.6(HEXA):c.284T>A (p.Leu95Ter)

SNV
Unknown

Chr15:72356587

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2088784856

1 SubmittersRCV001264045

NM_000520.6(HEXA):c.103C>T (p.Gln35Ter)

SNV
Germline

Chr15:72375870

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2089059318

1 SubmittersRCV001269254

NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)

SNV
Germline

Chr15:72349103

Conflicting classifications of pathogenicity

not specified
Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_1316178162

2 SubmittersRCV001280549 RCV001871610

NM_000520.6(HEXA):c.1171G>A (p.Val391Met)

SNV
Germline

Chr15:72346686

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140320821

1 SubmittersRCV001378981

NM_000520.6(HEXA):c.986+1G>A

SNV
Germline

Chr15:72349078

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2140322856

3 SubmittersRCV001379765

NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)

SNV
Germline

Chr15:72347734

Pathogenic/Likely pathogenic

Tay-Sachs disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_979690054

2 SubmittersRCV001381293

NM_000520.6(HEXA):c.1073+1G>C

SNV
Germline

Chr15:72348047

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_76173977

1 SubmittersRCV001390151

NM_000520.6(HEXA):c.755G>A (p.Arg252His)

SNV
Germline

Chr15:72350568

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_762255098

1 SubmittersRCV001388252

NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)

SNV
Germline

Chr5:151253220

Likely pathogenic

Tay-Sachs disease, variant AB

Criteria Provided
Single Submitter

rs_775585062

1 SubmittersRCV001782204

NM_000520.6(HEXA):c.917T>G (p.Leu306Ter)

SNV
Germline

Chr15:72349148

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_1567297439

1 SubmittersRCV001937008

NM_000520.6(HEXA):c.459+1G>A

SNV
Germline

Chr15:72353690

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140326761

1 SubmittersRCV002019285

NM_000520.6(HEXA):c.1330+2T>C

SNV
Germline

Chr15:72346525

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140320568

1 SubmittersRCV001889538

NM_000520.6(HEXA):c.672+2T>C

SNV
Germline

Chr15:72351131

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140324625

1 SubmittersRCV001928765

NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter)

SNV
Germline

Chr15:72375829

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140344619

1 SubmittersRCV002000073

NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter)

SNV
Germline

Chr15:72345517

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140319619

1 SubmittersRCV001994458

NM_000520.6(HEXA):c.995A>T (p.Asn332Ile)

SNV
Germline

Chr15:72348126

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140322212

1 SubmittersRCV001995718

NM_000520.6(HEXA):c.570G>T (p.Leu190=)

SNV
Germline

Chr15:72353068

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_1188885214

1 SubmittersRCV001914831

NM_000520.6(HEXA):c.986+1G>C

SNV
Germline

Chr15:72349078

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140322856

1 SubmittersRCV002022381

NM_000520.6(HEXA):c.412+1G>T

SNV
Germline/somatic

Chr15:72355558

Likely pathogenic

Condition: not provided
Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140328162

2 SubmittersRCV002261481 RCV003502613

NM_000520.6(HEXA):c.604C>T (p.His202Tyr)

SNV
Germline

Chr15:72351201

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

rs_2140324712

1 SubmittersRCV002275722

NM_000520.6(HEXA):c.786C>G (p.His262Gln)

SNV
Germline

Chr15:72350537

Likely pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

1 SubmittersRCV003149021

NM_000520.6(HEXA):c.766G>T (p.Glu256Ter)

SNV
Unknown

Chr15:72350557

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002306612

NM_000520.6(HEXA):c.609G>A (p.Trp203Ter)

SNV
Unknown

Chr15:72351196

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002309679

NM_000520.6(HEXA):c.1260G>A (p.Trp420Ter)

SNV
Unknown

Chr15:72346597

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002309775

NM_000520.6(HEXA):c.735C>A (p.Tyr245Ter)

SNV
Unknown

Chr15:72350588

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002309955

NM_000520.6(HEXA):c.814G>T (p.Gly272Ter)

SNV
Unknown

Chr15:72349251

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002308093

NM_000520.6(HEXA):c.718A>T (p.Lys240Ter)

SNV
Unknown

Chr15:72350605

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002309008

NM_000520.6(HEXA):c.844G>T (p.Glu282Ter)

SNV
Unknown

Chr15:72349221

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002309233

NM_000520.6(HEXA):c.1342C>T (p.Gln448Ter)

SNV
Unknown

Chr15:72346314

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002307010

NM_000520.6(HEXA):c.1294A>T (p.Lys432Ter)

SNV
Unknown

Chr15:72346563

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002310235

NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)

SNV
Germline

Chr15:72344130

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003058479

NM_000520.6(HEXA):c.1422-2A>G

SNV
Germline

Chr15:72345552

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003064288

NM_000520.6(HEXA):c.965A>T (p.Asp322Val)

SNV
Germline

Chr15:72349100

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003041241

NM_000520.6(HEXA):c.570G>A (p.Leu190=)

SNV
Germline

Chr15:72353068

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003041243

NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)

SNV
Germline

Chr15:72355592

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003064289

NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter)

SNV
Germline

Chr15:72346267

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003082780

NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)

SNV
Germline

Chr15:72346274

Conflicting classifications of pathogenicity

Tay-Sachs disease
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003100466 RCV003491243

NM_000520.6(HEXA):c.459+24G>C

SNV
Germline

Chr15:72353667

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002640625

NM_000520.6(HEXA):c.967G>T (p.Glu323Ter)

SNV
Germline

Chr15:72349098

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002629749

NM_000520.6(HEXA):c.1526+1G>A

SNV
Germline

Chr15:72345445

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002780783

NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)

SNV
Germline

Chr15:72345481

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002834041

NM_000520.6(HEXA):c.413-1G>A

SNV
Germline

Chr15:72353738

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV002857792

NM_000520.6(HEXA):c.1030T>A (p.Phe344Ile)

SNV
Germline

Chr15:72348091

Likely pathogenic

Tay-Sachs disease

No Assertion Criteria Provided

1 SubmittersRCV003111523

NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)

SNV
Germline

Chr15:72350545

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003155632

NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)

SNV
Germline

Chr5:151266851

Likely pathogenic

Tay-Sachs disease, variant AB

Criteria Provided
Single Submitter

1 SubmittersRCV003335828

NM_000520.6(HEXA):c.617T>A (p.Val206Glu)

SNV
Unknown

Chr15:72351188

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003405194

NM_000405.5(GM2A):c.427-14T>A

SNV
Germline

Chr5:151267282

Likely pathogenic

Tay-Sachs disease, variant AB

Criteria Provided
Single Submitter

1 SubmittersRCV003445451

NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter)

SNV
Germline

Chr15:72346564

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003502866

NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)

SNV
Germline

Chr15:72346293

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003502015

NM_000520.6(HEXA):c.986G>A (p.Trp329Ter)

SNV
Germline

Chr15:72349079

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003502016

NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)

SNV
Germline

Chr15:72349251

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003502017

NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)

SNV
Germline

Chr15:72348125

Conflicting classifications of pathogenicity

Tay-Sachs disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003502409

NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)

SNV
Germline

Chr15:72353709

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003503292

NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)

SNV
Germline

Chr15:72349231

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003503269

NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)

SNV
Germline

Chr15:72350526

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003503330

NM_000520.6(HEXA):c.254-1G>C

SNV
Germline

Chr15:72356618

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003609380

NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)

SNV
Germline

Chr15:72351167

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003609471

NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr15:72348052

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003610131

NM_000520.6(HEXA):c.460-2A>G

SNV
Germline

Chr15:72353180

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003610345

NM_000520.6(HEXA):c.3G>T (p.Met1Ile)

SNV
Germline

Chr15:72375970

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003610445

NM_000520.6(HEXA):c.672+1G>T

SNV
Germline

Chr15:72351132

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003609860

NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)

SNV
Germline

Chr15:72348090

Likely pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003609759

NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)

SNV
Germline

Chr15:72349100

Pathogenic

Tay-Sachs disease

Criteria Provided
Single Submitter

1 SubmittersRCV003825713